Short stature

SHORT STATURE Presented by: HAMZAT ZAHEED A. ABIMBOLA LAYENI E.

05/03/2023 HAMZAT & LAYENI

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WHY ARE WE CONCERN?

•BECAUSE, IT CAN BE A SIGN OF DISEASE, DISABILITY & A

SOCIAL STIGMA CAUSING PSYCHOLOGICAL STRESS.

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OUTLINEINTRODUCTION

GROWTH PHYSIOLOGY

DEFINITIONS

MEASUREMENTS

AETIOLOGIES

DIAGNOSIS

MANAGEMENT

SUMMARY.

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INTRODUCTION

• Short stature is a common problem and should be detected early and managed.

• About 2% of all children, or more than 1 million children in the US, present with

short stature. Boys come to medical attention because of short stature more

frequently than girls.

• In developing countries short statute is often a consequence of malnutrition.

Prevalence rates for stunting in adolescents and children range from 9% to 11% in

South America and are as high as 30% in parts of Africa

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GROWTH PHYSIOLOGY

NORMAL GROWTH

ENVIRONMENT

HORMONESGENETIC FACTORS

DIETARY FACTORS

•Growth hormone•Thyroid hormone•Gonadotrophins



Important Growth Factors

Postnatal

Prenatal

Puberty

• First sign of puberty in females precedes the first

sign of puberty in males by 6months.

• Insulin, IGF-1 and IGF-2•Uterine function & size, maternal

nutrition

•Growth hormone and IGF-1•Thyroxin

• Gonadal hormones•GH, thyroid hormone,& nutrition


Growth is a continuous but not linear process.

length

age

Growth velocity

50cm 75cm 105cm

birth 1 year 4 year 12 year

145cm

25cm/year 10cm/year 5cm/year

HEIGHT VELOCITY


DEFINITIONSShort stature could be defined as:

• Height ≤ -2 SD or < 3rd percentile. for children of that sex and

chronologic age (and ideally of the same racial-ethnic group).

• Height velocity < 2 inches (5 cm) per year --Downward crossing of

percentiles on growth chart after age 2-3 years of age

• Height prediction below genetic potential or below the Target height

• More than two standard deviations below the mid-parental height


• Even if the height is within the normal percentiles but growth velocity is

consistently below 25th percentile over 6-12 months of observation

• A growth velocity disorder is defined as an abnormally slow growth rate,

which may manifest as height deceleration across two major percentile

lines on the growth chart.



MEASUREMENTS

• This is the most important part in diagnosis and management of

short stature.

• one study found that 38% of boys and 20% of girls who were

referred were of normal height, the referral being due to errors

in measurement, errors in plotting on the growth chart, or

failure to account for the child's genetic height potential.05/03/2023 HAMZAT & LAYENI 12

How to measure height


GROWTH CHARTS

In addition to charts used to calculate height generally, there

are special types of charts for example for:-

• Preterm babies.

• Down syndrome.

• Turner syndrome.

• Skeletal dysplasia ( achondroplasia).

There are different charts for: ages, sex,

weight, Height

and head circumference


WHO GROWTH CHART FOR BOYS


MID PARENTAL CENTILE

• One of the most important causes of short stature is familial short stature.

• A child may be considered short even if he is on the normal centiles if he

was born to extremely tall parents

• BOYS: [Father’s Ht + Mother’s Ht ] + 13

2• GIRLS:

[Father’s Ht + Mother’s Ht] - 13) 2


Upper Segment – Lower Segment

Upper Segment : vertex to upper end of symphysis pubis

Lower Segment : upper end of symphysis pubis to the sole.

Normal Upper Seg. Lower Seg. At Birth 1.7 1.0

At 10-12 years 1.0 1.0

Adult 0.9 1.0

Decreases by 0.1 per year05/03/2023 HAMZAT & LAYENI 17

ARM SPAN

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SHORT CHILD THAT LOOKS NORMAL

Normal growth velocity Low growth velocity

Low birth weight

Growth delay

Idiopathic SS

Chronic systemic disease

Endocrine disorder

Genetic, chromosomal

Psychosocial

Calculate TH

Within Target RangeNot Within Target Range

Watch GV Observe – GV Normal



Short Stature

Proportionate

Normal Variants• Familial• Constitutional delay in growthPrenatal causes• IUGR• Intrauterine infections• Genetic DisordersPostnatal Causes• Nutritional dwarfism• Chronic visceral disease• Endocrine disorders• Emotional deprivation

Short Limbed• Achandroplasia• Chondrodysplasias• Diastrophic dysplasia

Short Trunk• Spondyloepiphyseal

dysplasia• Mucopolysaccharidosis• Mucolipidoses• Caries spine• Hemivertebrae

Disproportionate


Feature Familial Short Stature Constitutional Short Stature

1) Sex Both equally affected More common in boys

2) Length at Birth Normal( crosses percentile downwards by 3yrs)

Normal (starts falling <5th centile in 1st 3yrs of life)

3) Family History Of short stature Of delayed puberty

4) Parents Stature Short (one or both) Average

5) Height Velocity < NORMAL but gains >4cm/yr Normal

6) Puberty Normal Delayed

7) Bone Age & Chronological Age

BA = CA > Height Age CA > BA = Height Age

8) Final Height Short, but normal for targetheight

Normal due to normal growth in pre pubertal years.

COMPARISON


GROWTH CHART SHOWING DIFFERENT SHORT STATURE


MANAGEMENT

DIAGNOSIS


HISTORY

HISTORY OF CHRONIC DISEASES

Birth history:

Mother’s pregnancy

Illness, toxins, alcohol/drugs,

Perinatal events

NUTRITIONAL HISTORY

24-hour food recall or three-day

food diary is important in the

evaluation.

FAMILY HISTORY

The heights of parents determine the

heights of their children; most children

also follow their parents' pubertal tempos

SOCIAL HISTORY


THOROUGH SYSTEMS EVALUATION

SIGNS OF • CHD• HTN• CHF

• CHEST DEFORMITIS

• CHRONIC LUNG

DISEASECYSTIC

FIBROSIS

• ASTHMA

Resp CVS Abd CNS

• VISUAL ACUITY

• VISUAL FIELDS

•HYDROCEPHALUS

HEPATOMEGALY

SPLENOMEGALY

MASSES

ASCITES

• URINE OUTPUT

Renal


POINTERS TO ETIOLOGY OF SHORT STATUREPointer EtiologyMidline defects, micropenis, Frontal bossing, depressed nasal bridge, crowded teeth,

GH deficiency

Rickets Renal failure, Renal tubular acidosis, malabsorption

Pallor Renal failure, malabsorption, nutritional anemia

Malnutrition PEM, malabsorption, celiac disease, cystic fibrosis

Obesity Hypothyroidism, Cushing syndrome, Prader Willi syndrome

Metacarpal shortening Turner syndrome, pseudohypoparathyroidism

Cardiac murmur Congenital heart disease, Turner syndromeMental retardation Hypothyroidism, Down/ Turner syndrome,

pseudohypoparathyroidism 05/03/2023 HAMZAT & LAYENI 27

GENERAL EXAMINATIONCHARACTERISTIC FACIES

HANDS AND FEET

HEAD AND NECK

CHEST AND ABDOMEN

LOWER LIMBS

Achondroplasia Trident hand Blue sclera……. osteogenesis imperfect

Rosary beads….. Rickets Most defects found

in rickets:

Genum varum

Genum valgum

Windswept

deformity

Pathological

fracture

Turner syndrome Short 4th metacarpal

Short webbed neck Wide spaced nipple

Noonan syndrome Low set ears Stria……. Cushing syndrome

Muopolysaccharidosis Coarse features Hepatosplenomegaly

Russell silver syndrome

Asymmetry Distended abdomen…. Coeliac


INVESTIGATIONSLe

vel • CBC, ESR

• BONE AGE• Urinalysis- Rtn, pH,

Osmolality)• Stool ( parasites, steatorrhea,

occult blood)• Blood ( RFT, Calcium,

Phosphate, alkaline phosphatase, venous gas, fasting sugar, albumin, transaminases

Leve

l 2 • S thyroxin, TSH

• Buccal smear

• Malabsorption studies

• Renal acidification studies

• Urinary aminoacidogram

• Imaging (US, CT, MRI

scans)

Leve

l 3

• Karyotyping• Celiac serology.

(anti-endomysial or anti- tissue transglutaminase antibodies)

• Duodenal biopsy• GH stimulation test • Serum insulin like GF-1

levels, IGFBP – 3 levels


3 Ages !

Height Age

Bone Age

Chronological Age

•A child with delayed bone age has a better prognosis for future height gain than those with appropriate or

advanced bone age.

• Indicator of skeletal maturation.

• Age at which the child should have reached his or her height

• Actual age of the child


BONE AGE DETERMINATION Ossification Centers at birth :

Distal end of femur Proximal end of tibia Head of humerus Calcaneus Talus Cuboid

Ossification Centers at 1 year: Upper end of humerus Carpal centers - 2 mo

(1 center for each yr from then onwards) Ossification at 3 yrs :

Metacarpal and phalangeal epiphyses Ossification Centers at 8-12 yrs:

Distal ulna (8-9 in girls and 10-12 in boys) Ossification Centers at 12-16 yrs:

Lesser Trochanter – 12 yrs Iliac Crest – 16 yrs

X Ray of Which Bones ?

• Newborn- Foot & knee

• 3 – 9 mo.- Shoulder

• 1 – 13 years- Hands & wrist

• 12 – 14 years - Elbow & hip

Primarily based on : Appearance of epiphyseal

ossification centersFusion of ossification centers


TREATMENTChr Disease

•Inflammatory bowel disease•Renal tubular acidosis•Zinc deficiency•Malabsorption•Hypophosphatemia•Mal-digestion

Nutritional•Treat malnutrition•Deworming•Dietary Counseling

Hormonal•Thyroid hormone :•GH deficiency : GH•IGF -1 Therapy – (In Laron Syndrome)

Psychological•Counseling•Behavioural therapy


GH Therapy Incations

1 Congenital malformations of hypothalamus and pituitary

2 Tumours

3 Chronic inflammation

4 Following radiotherapy and chemotherapy for neoplastic disease

5 May be as a part of panhypopituitarism

6 Laron Syndrome (GH Unresponsiveness).

7 Genetically determined disturbances


GH Therapy Other Indications

1 Turner’s syndrome (+ Oxandralone)

2 Chronic Kidney Disease

3 Prader – Willie Syndrome

4 HIV – Wasting Syndrome

5 SGA - who haven’t reach the 5th percentile by 2 yrs

6 Russel Silver Syndrome

7 Idiopathic Short Stature


GROWTH HORMONE THERAPY IN SHORT STATURE

Potential side effects

• Insulin resistance, • Increased intracranial pressure, • Sleep apnea• ? Increased risk of neoplasia

0.2 to 0.3 mg / kg / week Subcutaneously


PSYCHOSOCIAL CONSEQUENCES

• Overall : Most children have normal psychosocial function

• Short stature may be a risk factor for psychosocial problems*

– Social immaturity

– Infantility

– Low self esteem

– Being bullied

*May be a function of several risk factors including parental attitudes and prevailing cultural opinions

*Clinic-based populations may display greater psychosocial dysfunction

From Lawson Wilkins Consensus Statement on ISS JCEM epub Sept 2008


SUMMARY


CONCLUSION.

• Short stature is a common problem in pediatric practice.

• Measurements are the most important step in assessment and

management.

• Growth charts should be used properly to prevent short stature in children.

• Regular follow up remains the initial management step.

• Familial and constitutional short stature are the most common causes.


Jyoti AmgeChandra Bahadur Dangi

Record holding shortest living individuals


REFERENCES • emedicine.medscape

• Westchester Health Associates Paediatrics: Short Stature and Poor

Growth

• Dr. Yassin M Al-Saleh, Dr Muhammad Adeel

Zafar, Dr. C.S.N.Vittal : Approach to short stature

• Royal College of Pediatric and Child Health

• Paediatrics Endocrinology: Cork University Hospital.05/03/2023 HAMZAT & LAYENI 40

Education

Short stature